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Items: 1 to 20 of 52430

1.

Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the CYP4X1 gene.

Poleggi A, van der Lee S, Capellari S, Puopolo M, Ladogana A, De Pascali E, Lia D, Formato A, Bartoletti-Stella A, Parchi P, van Duijn C, Pocchiari M.

J Neurol Neurosurg Psychiatry. 2018 Jul 21. pii: jnnp-2018-318756. doi: 10.1136/jnnp-2018-318756. [Epub ahead of print]

PMID:
30032116
2.

Two cases of sporadic adult-onset neuronal intranuclear inclusion disease preceded by urinary disturbance for many years.

Nakamura M, Ueki S, Kubo M, Yagi H, Sasaki R, Okada Y, Akiguchi I, Kusaka H, Kondo T.

J Neurol Sci. 2018 Jul 17;392:89-93. doi: 10.1016/j.jns.2018.07.012. [Epub ahead of print]

PMID:
30031993
3.

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.

Virtanen VB, Salo PP, Cao J, Löf-Granström A, Milani L, Metspalu A, Rintala RJ, Saarenpää-Heikkilä O, Paunio T, Wester T, Nordenskjöld A, Perola M, Pakarinen MP.

Eur J Med Genet. 2018 Jul 18. pii: S1769-7212(18)30076-4. doi: 10.1016/j.ejmg.2018.07.019. [Epub ahead of print]

PMID:
30031151
4.

Recapitulation of Pathological TDP-43 Features in Immortalized Lymphocytes from Sporadic ALS Patients.

Posa D, Martínez-González L, Bartolomé F, Nagaraj S, Porras G, Martínez A, Martín-Requero Á.

Mol Neurobiol. 2018 Jul 20. doi: 10.1007/s12035-018-1249-8. [Epub ahead of print]

PMID:
30030753
5.

Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS.

Helferich AM, Brockmann SJ, Reinders J, Deshpande D, Holzmann K, Brenner D, Andersen PM, Petri S, Thal DR, Michaelis J, Otto M, Just S, Ludolph AC, Danzer KM, Freischmidt A, Weishaupt JH.

Cell Mol Life Sci. 2018 Jul 20. doi: 10.1007/s00018-018-2873-1. [Epub ahead of print]

PMID:
30030593
6.

Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.

Snuderl M, Kannan K, Pfaff E, Wang S, Stafford JM, Serrano J, Heguy A, Ray K, Faustin A, Aminova O, Dolgalev I, Stapleton SL, Zagzag D, Chiriboga L, Gardner SL, Wisoff JH, Golfinos JG, Capper D, Hovestadt V, Rosenblum MK, Placantonakis DG, LeBoeuf SE, Papagiannakopoulos TY, Chavez L, Ahsan S, Eberhart CG, Pfister SM, Jones DTW, Karajannis MA.

Nat Commun. 2018 Jul 20;9(1):2868. doi: 10.1038/s41467-018-05029-3.

PMID:
30030436
7.

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Lotz-Havla AS, Röschinger W, Schiergens K, Singer K, Karall D, Konstantopoulou V, Wortmann SB, Maier EM.

Orphanet J Rare Dis. 2018 Jul 20;13(1):122. doi: 10.1186/s13023-018-0875-6.

8.

The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease.

Murray CE, Gami-Patel P, Gkanatsiou E, Brinkmalm G, Portelius E, Wirths O, Heywood W, Blennow K, Ghiso J, Holton JL, Mills K, Zetterberg H, Revesz T, Lashley T.

Acta Neuropathol Commun. 2018 Jul 20;6(1):62. doi: 10.1186/s40478-018-0563-8.

9.

Emerging antisense oligonucleotide and viral therapies for amyotrophic lateral sclerosis.

Ly CV, Miller TM.

Curr Opin Neurol. 2018 Jul 19. doi: 10.1097/WCO.0000000000000594. [Epub ahead of print]

PMID:
30028737
10.

[Genomics of neuroendocrine tumors of the lung and gastrointestinal tract: similarities and differences].

Tímár J, Patócs A.

Magy Onkol. 2018 Jul 20;62(2):77-82. Epub 2018 May 10. Hungarian.

12.

Spinning plates: livelihood mobility, household responsibility and anti-retroviral treatment in an urban Zambian community during the HPTN 071 (PopART) study.

Bond V, Ngwenya F, Thomas A, Simuyaba M, Hoddinott G, Fidler S, Hayes R, Ayles H, Seeley J; HPTN 071 (PopART) study team.

J Int AIDS Soc. 2018 Jul;21 Suppl 4:e25117. doi: 10.1002/jia2.25117.

PMID:
30027643
13.

Genomic mosaicism in the developing and adult brain.

Rohrback S, Siddoway B, Liu CS, Chun J.

Dev Neurobiol. 2018 Jul 20. doi: 10.1002/dneu.22626. [Epub ahead of print] Review.

PMID:
30027562
14.

Lynch Syndrome - Cancer Pathways, Heterogeneity and Immune Escape.

Seth S, Ager A, Arends M, Frayling IM.

J Pathol. 2018 Jul 20. doi: 10.1002/path.5139. [Epub ahead of print] Review.

PMID:
30027543
15.

Long-term Outcome of Gamma Knife Radiosurgery for Brain Cavernoma: Factors Associated with Subsequent de novo Cavernoma Formation.

Sheen JJ, Lee DH, Lee DH, Song Y, Kwon DH.

World Neurosurg. 2018 Jul 16. pii: S1878-8750(18)31524-9. doi: 10.1016/j.wneu.2018.07.046. [Epub ahead of print]

PMID:
30026166
16.

Identifying prognostic factors for well-differentiated metastatic pancreatic neuroendocrine tumours (pNETs): A retrospective international multicenter cohort study.

Jimenez-Fonseca P, Krug S, Tamagno G, Fierro Maya F, Monleon Getino A, Rodriguez Casado CI, Costa F, de Herder WW, Jann H.

Neuroendocrinology. 2018 Jul 19. doi: 10.1159/000492223. [Epub ahead of print]

PMID:
30025389
17.

Modeling APC mutagenesis and familial adenomatous polyposis using human iPS cells.

Sommer CA, Capilla A, Molina-Estevez FJ, Gianotti-Sommer A, Skvir N, Caballero I, Chowdhury S, Mostoslavsky G.

PLoS One. 2018 Jul 19;13(7):e0200657. doi: 10.1371/journal.pone.0200657. eCollection 2018.

18.

Bi-directional longitudinal associations between different types of bullying victimization, suicide ideation/attempts, and depression among a large sample of European adolescents.

Brunstein Klomek A, Barzilay S, Apter A, Carli V, Hoven CW, Sarchiapone M, Hadlaczky G, Balazs J, Kereszteny A, Brunner R, Kaess M, Bobes J, Saiz PA, Cosman D, Haring C, Banzer R, McMahon E, Keeley H, Kahn JP, Postuvan V, Podlogar T, Sisask M, Varnik A, Wasserman D.

J Child Psychol Psychiatry. 2018 Jul 19. doi: 10.1111/jcpp.12951. [Epub ahead of print]

PMID:
30024024
19.

A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome.

Wang LR, Radonjic A, Dilliott AA, McIntyre AD, Hegele RA.

J Investig Med High Impact Case Rep. 2018 Jul 12;6:2324709618786770. doi: 10.1177/2324709618786770. eCollection 2018 Jan-Dec.

20.

Air-Liquid Interface Method To Study Epstein-Barr Virus Pathogenesis in Nasopharyngeal Epithelial Cells.

Caves EA, Cook SA, Lee N, Stoltz D, Watkins S, Shair KHY.

mSphere. 2018 Jul 18;3(4). pii: e00152-18. doi: 10.1128/mSphere.00152-18.

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